Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease.
case_report · Level V
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- Record sourced from PubMed, PMID 11470934.
- Also identified by PMC identifier 1742114.
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Abstract
A 6 year old boy who presented with steroid unresponsive nephrotic syndrome is reported. He was found to have focal segmental glomerulosclerosis and associated hypoparathyroidism and sensorineural deafness. The child progressed to end stage renal failure and was successfully managed by dialysis and cadaveric renal transplantation. He later developed progressive neurological deterioration and mitochondrial myopathy and neuropathy was diagnosed.
Medical subject headings
- Glomerulosclerosis, Focal Segmental
- Mitochondrial Myopathies
- Nervous System Diseases